LOCUS       NM_001190417            4040 bp    mRNA    linear   PRI 13-DEC-2024
DEFINITION  Homo sapiens zinc finger protein 674 (ZNF674), transcript variant
            3, mRNA.
ACCESSION   NM_001190417
VERSION     NM_001190417.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4040)
  AUTHORS   Delphin,N., Hanein,S., Taie,L.F., Zanlonghi,X., Bonneau,D.,
            Moisan,J.P., Boyle,C., Nitschke,P., Pruvost,S., Bonnefont,J.P.,
            Munnich,A., Roche,O., Kaplan,J. and Rozet,J.M.
  TITLE     Intellectual disability associated with retinal dystrophy in the
            Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
  JOURNAL   Eur J Hum Genet 20 (3), 352-356 (2012)
   PUBMED   22126752
  REMARK    GeneRIF: These findings question the responsibility of ZNF674
            deletions in intellectual disability (ID) associated with X-linked
            retinal dystrophy.
REFERENCE   2  (bases 1 to 4040)
  AUTHORS   Lugtenberg,D., Yntema,H.G., Banning,M.J., Oudakker,A.R.,
            Firth,H.V., Willatt,L., Raynaud,M., Kleefstra,T., Fryns,J.P.,
            Ropers,H.H., Chelly,J., Moraine,C., Gecz,J., van Reeuwijk,J.,
            Nabuurs,S.B., de Vries,B.B., Hamel,B.C., de Brouwer,A.P. and van
            Bokhoven,H.
  TITLE     ZNF674: a new kruppel-associated box-containing zinc-finger gene
            involved in nonsyndromic X-linked mental retardation
  JOURNAL   Am J Hum Genet 78 (2), 265-278 (2006)
   PUBMED   16385466
  REMARK    GeneRIF: Identification of ZNF674 as the third X-linked mental
            retardation gene in this cluster may indicate a common role for
            these zinc-finger genes that is crucial to human cognitive
            functioning.
            Erratum:[Am J Hum Genet. 2006 May;78(5):897]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC317540.1, AY971607.1,
            AL031393.1 and AW173662.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001190417.1.
            
            Summary: This gene encodes a zinc finger protein with an N-terminal
            Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type
            C2H2 zinc finger domains. Like other zinc finger proteins, this
            gene may function as a transcription factor. This gene resides on
            an area of chromosome X that has been implicated in nonsyndromic
            X-linked cognitive disabilities. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site at a coding exon, compared to variant 1, resulting in
            an isoform (3), which is 5 aa shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DC317540.1, DC344581.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683375.1/ ENSP00000506769.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-516               DC317540.1         21-536
            517-2654            AY971607.1         552-2689
            2655-4037           AL031393.1         19554-20936         c
            4038-4040           AW173662.1         5-7                 c
FEATURES             Location/Qualifiers
     source          1..4040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..4040
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /note="zinc finger protein 674"
                     /db_xref="GeneID:641339"
                     /db_xref="HGNC:HGNC:17625"
                     /db_xref="MIM:300573"
     exon            1..51
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /inference="alignment:Splign:2.1.0"
     exon            52..162
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /inference="alignment:Splign:2.1.0"
     exon            163..206
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..1922
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /note="isoform 3 is encoded by transcript variant 3; zinc
                     finger family member 674"
                     /codon_start=1
                     /product="zinc finger protein 674 isoform 3"
                     /protein_id="NP_001177346.1"
                     /db_xref="CCDS:CCDS94605.1"
                     /db_xref="GeneID:641339"
                     /db_xref="HGNC:HGNC:17625"
                     /db_xref="MIM:300573"
                     /translation="MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHL
                     VSVGHLVGKPDVIFRLGPGDESWMADGGTPVRTCAEVWEVDEQIDHYKESQDKFLWQA
                     AFIGKETLKDESGQECKICRKIIYLNTDFVSVKQRLPKYYSWERCSKHHLNFLGQNRS
                     YVRKKDDGCKAYWKVCLHYNLHKAQPAERFFDPNQRGKALHQKQALRKSQRSQTGEKL
                     YKCTECGKVFIQKANLVVHQRTHTGEKPYECCECAKAFSQKSTLIAHQRTHTGEKPYE
                     CSECGKTFIQKSTLIKHQRTHTGEKPFVCDKCPKAFKSSYHLIRHEKTHIRQAFYKGI
                     KCTTSSLIYQRIHTSEKPQCSEHGKASDEKPSPTKHWRTHTKENIYECSKCGKSFRGK
                     SHLSVHQRIHTGEKPYECSICGKTFSGKSHLSVHHRTHTGEKPYECRRCGKAFGEKST
                     LIVHQRMHTGEKPYKCNECGKAFSEKSPLIKHQRIHTGERPYECTDCKKAFSRKSTLI
                     KHQRIHTGEKPYKCSECGKAFSVKSTLIVHHRTHTGEKPYECRDCGKAFSGKSTLIKH
                     QRSHTGDKNL"
     exon            207..333
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /inference="alignment:Splign:2.1.0"
     exon            334..429
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /inference="alignment:Splign:2.1.0"
     exon            430..4040
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4016..4021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /note="hexamer: AATAAA"
     polyA_site      4040
                     /gene="ZNF674"
                     /gene_synonym="MRX92; ZNF673B"
                     /note="major polyA site"
ORIGIN      
        1 cacactggct gttgtcatcc gcccctgagg tttcaggctg tcggcagtga aggtcagagt
       61 gcagacctga gaccactgct caccgatttc agactccagt ttatctgtgc ctcggcttcc
      121 ccacttagtc gcagaagact taggctgagg ccccaggaag agatctccat cctttgcagg
      181 agcacaacaa gatggccatg tcccaggaat cattgacctt caaggacgtg tttgtggact
      241 tcaccctgga ggagtggcag caactggact ctgcccagaa gaacctctac agggatgtca
      301 tgcttgagaa ctacagccac ctggtgtccg tggggcatct agttgggaag ccagatgtga
      361 tcttcaggtt gggaccaggt gacgagtcct ggatggcaga tggagggacc ccggtacgga
      421 cctgtgcaga agtctgggaa gttgacgagc agatagatca ctacaaggaa agccaagaca
      481 aatttctgtg gcaagctgca ttcataggca aggaaacact gaaggatgaa agtggtcaag
      541 aatgtaaaat atgtagaaaa atcatttatc tcaacacaga ctttgtttct gtaaaacaaa
      601 gactccctaa atattattca tgggaaaggt gttcaaaaca tcatttaaac tttcttggtc
      661 aaaatagaag ctatgtaaga aagaaagatg atggatgtaa ggcatattgg aaagtatgcc
      721 tccattataa tcttcataaa gctcaacctg cagagagatt ttttgaccct aatcaacgag
      781 ggaaagccct ccaccaaaag caagccctta gaaaaagtca gagaagtcaa actggggaga
      841 aactctacaa atgtactgaa tgtggaaaag tgtttatcca gaaagcaaac ttagttgtac
      901 atcaaagaac tcacaccgga gagaaacctt atgaatgctg cgaatgtgca aaagccttca
      961 gccagaagtc aaccctcata gcacaccaga gaactcacac aggggagaag ccctatgaat
     1021 gcagtgaatg tggaaaaacc tttatccaga agtcaactct gattaaacat caacgaactc
     1081 atacaggaga gaaaccattt gtatgtgaca aatgtccaaa agcctttaag agttcatatc
     1141 atcttattag acatgaaaaa acacacatta gacaagcatt ttataaaggt attaaatgta
     1201 ctacgtccag ccttatatat caaagaattc acacaagtga gaaacctcag tgcagtgaac
     1261 atgggaaagc ctctgatgag aagcccagtc ccactaaaca ttggagaact catacaaaag
     1321 agaacattta tgagtgtagt aaatgtggga aaagcttcag aggaaagtca cacctctctg
     1381 ttcatcagag aattcataca ggagagaaac cctatgaatg tagtatatgt gggaagactt
     1441 tcagtggaaa gtcacacctc tctgtccatc atagaactca tacaggagag aaaccttatg
     1501 aatgcagaag atgtgggaaa gcctttgggg agaagtcaac ccttattgta catcagagaa
     1561 tgcatacagg agagaaaccc tataaatgca acgaatgtgg gaaagccttt agtgagaagt
     1621 caccactgat taaacatcag agaattcata caggagagag accctatgaa tgcactgact
     1681 gtaaaaaagc cttcagtagg aagtcaactc tcatcaaaca tcagagaatt catacaggag
     1741 aaaaacctta caaatgtagt gaatgtggga aggccttcag tgtgaaatca actctcattg
     1801 tgcatcacag aactcataca ggagagaaac cttatgaatg cagagactgt gggaaagcat
     1861 tcagtgggaa gtcaactctc attaaacatc agagaagtca cacaggagat aaaaacctat
     1921 gattatactt gagagtggga taattatact agtagttatt tgtcatttga ctattactag
     1981 tctcattatt tgtcaaataa tcatggcgag taatcttata aatgtccaga atattggaaa
     2041 ttcttcatat gttaatgttc atttaactta atacaaagta caaaagtata attccagagg
     2101 tgtcaataaa tgtgatcagt tttttcaccc agaattcttc acccaggagt gaagaactgt
     2161 atgtcaaata attcaaaagg ggcaaaactg aatgtagtta tgtgggaaag ccttcagaaa
     2221 taatttaaat ggcactgttt atcagagtat gtatgccgag gaaaactaag aatttagtga
     2281 gcttataaaa ccatggtagc caggcgtggt acgtagctca cacctgtaat cctagcactt
     2341 ttgggaggct gaggtgggca gattgcttga gctcacaagt ttgagaccag cctgggcaac
     2401 atggcaaaac tctgtctcta caaaaaatac aaaagttatc tgagtgtagt ggtgcatacc
     2461 tttagtccca gctactcagg aggttgaagt aggagggtgg cttgagccca ggaggcagag
     2521 gttgcagtga actgagatcg tgccactgca ctccagcctg ggcattatag ccagaccttg
     2581 tcaaataaat aaataaacaa acccatggta taaatgagag gaatcatgct ctatattctt
     2641 ttattaatag agacagggtc ttgctatgtt gcccaggctg gtcttgaact cgtagcgtta
     2701 attgatcctc ccacctttgc ctcccaaagc acttgtatta tagatatgag ccaccacact
     2761 taccatgttc tttaccaaac attttgtgga agaggtgtag aggtggcaaa caattataaa
     2821 tttaagatat gttcactgtg gagtagagta tgattattta tttatttaga gatggagttt
     2881 cgctcttctc gcccaggctg gagtgcagtg gcacgatctt ggctcactgc agcctctgcc
     2941 ttccaggttc aagtgattct cctgcctcag cctcccaagt agctgggatt acaggcaccc
     3001 accaccacac ccggctaatt cttttttttt tttttttttt ttagtagaga cgcagttttg
     3061 ccatgttggg caggctggtc tcgaactcct gacctcaggt aatccgcccg cctcagcctc
     3121 ccaaagtgct gggattatag gcgagagcca ccacgctcag tgagtatgac atttttaaaa
     3181 gaacagtata aagcataaaa tatcccatgt ggggcaaact cccagattat tttcctaaac
     3241 aaatagaaaa aatgcttcct gaaatagggt aagagaggat gagtcatcag gatccctgaa
     3301 acaaagatct caaacaggag accttacgta tattattcat caatatcttc agtgcaaaaa
     3361 tgcaaagcca ttacagaaag ggcacatagt aagcttttac atactttcct taggaacagt
     3421 gcttagaact taaaattctc catgttttaa taaagagtaa taattttatg gtgaagcaat
     3481 ataagattta aaattttcag agtatcttcc ataacagcag tattatttaa agtagtgaaa
     3541 aaataagaca atttaatatc caatgataga tgattaaaaa ttggtatgtc aggtgaaata
     3601 acatgcacca attaagacta ctggcaaatt tgggaaaatg ttcgtggtaa atcattaggt
     3661 aaaaaatatt ataaaacaat aaccatatga ttaatattgt acaaacagga agtatatgaa
     3721 ccattatatc agtgattctg ggtggttgac atataaaaat tttgtgatga gtaaagttat
     3781 atgcacatat aagtataaat ttgtatttat ttaagtataa atttgtattc acctatttca
     3841 taggtgagtg tgtgtgtata gataaacaca tggaacaaaa agttaggtat atctgtgtag
     3901 tgtggaggga aaaagctagg aaagaaatac accaaattat taagtaaatt ggcatttgaa
     3961 tgtggggatt attgatgtgt aaaaattttt ttgattgtag tctccagaaa tcaccaataa
     4021 agtatatcgt ttaaagtgta
//
